{"orpha":2874,"name":"Phakomatosis pigmentokeratotica","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2874/","orphanet_url":"https://www.orpha.net/en/disease/detail/2874","names":{"fr":{"name":"Phacomatose pigmento-kératosique","definition":"Nævus épidermique rare caractérisé par l'association d'un nævus lentigineux d'aspect moucheté accompagné de nævi sébacés épidermiques, avec des anomalies extracutanées."},"de":{"name":"Phakomatosis pigmentokeratotica","definition":"Ein seltener epidermaler Naevus, der durch das gemeinsame Auftreten eines fleckigen lentiginösen Naevus und eines epidermalen Naevus sebaceus sowie weiterer nicht-kutaner Anomalien gekennzeichnet ist."},"es":{"name":"Facomatosis pigmento-queratótica","definition":"Es un nevo epidérmico poco frecuente caracterizado por la asociación de nevos lentiginosos moteados con nevos sebáceos, epidérmicos y anomalías extracutáneas."},"it":{"name":"Facomatosi pigmento-cheratosica","definition":"La facomatosi pigmento-cheratosica (PPK) è una malattia molto rara da nevi epidermici, caratterizzata dall'associazione tra nevi, lentigginosi a chiazze, nevi sebacei epidermici e anomalie extracutanee."},"nl":{"name":"Phakomatosis pigmentokeratotica","definition":"Een zeldzame aandoening met epidermale naevus, gekenmerkt door de associatie van gespikkelde lentigineuze naevi met epidermale naevus sebaceus, en extracutane anomalieën."},"pt":{"name":"Facomatose pigmento-queratótica"},"pl":{"name":"Fakomatoza barwnikowo-rogowaciejąca","definition":"Rzadkie zaburzenie ze znamionami naskórkowymi charakteryzujące się współistnieniem znamion soczewicowatych plamistych ze znamionami naskórkowymi i nieprawidłowościami pozaskórnymi."},"cs":{"name":"Phakomatosis pigmentokeratotica","synonyms":["Pigmentokeratotická fakomatóza"]},"uk":{"name":"Пігментокератозний факоматоз","definition":"A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies."},"zh":{"name":"色素角化性母斑症"},"tr":{"name":"Fakomatoz pigmentokeratotika"}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"960559196"},{"source":"MONDO","code":"0017317","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537893","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931658","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4311","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"HRAS","name":"HRas proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23337891[PMID]","hgnc":"5173","ensembl":"ENSG00000174775","omim":"190020","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"24877171[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-08","source":"33583608[PMID]_34288866[PMID]_32769312[PMID]_31788526[PMID]","terms":[{"hpo":"HP:0010817","label":"Linear nevus sebaceous","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025510","label":"Nevus spilus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100556","label":"Hemiatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100814","label":"Blue nevus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030409","label":"Renal transitional cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012583","label":"Unilateral renal hypoplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}